Clinical medicine (London, England)
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Virtually all medical specialties are impacted by genetic disease. Enhanced understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, is transforming the speed of diagnosis for patients and providing increasing opportunities to tailor management. ⋯ This article provides a brief overview of genomics and its current clinical applications, including its contribution to personalised medicine. Physicians will be signposted to key issues that will allow the successful implementation of genomics for rare disease diagnosis and cancer management.
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This article reviews our current understanding and modern treatment of multiple sclerosis (MS). MS is a disabling condition resulting in devastating social and economic impacts. As MS can affect any part of the central nervous system, the presentation is often diverse; however, there are key features that can be useful in the clinic. ⋯ Although the underlying aetiology of MS is still not known, we summarise those with most evidence of association. Finally, we aim to present treatment strategies for managing the acute relapse, disease-modifying therapies and MS symptoms. This review highlights that progressive MS is an area where there is currently a paucity of available disease-modifying treatments and this will be a major focus for future development.
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Advances in sequencing technology have led to the introduction of panel testing in hereditary breast and ovarian cancer. While direct-to-consumer testing services have become widely available, the clinical validity of many of the genes on panel tests remains contentious and risk management guidelines are often lacking. This article gives an overview of advantages with panel testing as well as important challenges, including clinical translation of test results.
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Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. ⋯ However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system. Common genetic conditions associated with lymphoedema include Turner syndrome and Noonan syndrome; however, there are numerous others that can be classified based on their clinical presentation and associated features. Herein we discuss how to diagnose and classify the known primary lymphoedema conditions and how best to investigate and manage this group of patients.
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Observational Study
Frequency of stepping down antibiotics and nebuliser treatment is lower at weekends compared to weekdays: an observational study.
We hypothesised that delays in providing non-urgent medication step-downs at weekends to medical management may be associated with increased length of stay. In a novel use of electronic prescribing data, we analysed emergency admissions from a busy acute medical hospital over 52 weeks from November 2014 to October 2015. The main outcomes of interest were switching from intravenous antibiotics to oral antibiotics and stopping nebulised bronchodilators. ⋯ Median length of stay was shorter in those whose antibiotic treatment was stepped down at weekends compared with weekdays (4 days versus 5 days, p<0.001). Reduced medication step-downs at weekends may represent a bottleneck in patient flow. Electronic prescribing data are a valuable resource for future health services research.